Linked Data
dbSNP Id:
rs769350067
ExAC:
14:92343998 C / A
gnomAD v2:
14-92343998-C-A
gnomAD v4:
14-91877654-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91877654C>A , CM000676.2:g.91877654C>A | GRCh38 |
| NC_000014.8:g.92343998C>A , CM000676.1:g.92343998C>A | GRCh37 |
| NC_000014.7:g.91413751C>A | NCBI36 |
| NG_008254.1:g.75049G>T , LRG_364:g.75049G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557088.6:c.*984G>T | ENSP00000451002.1:n.*984G>T | |
| ENST00000557570.2:c.850G>T | ENSP00000450787.2:p.Gly284Cys | |
| ENST00000706675.1:n.833G>T | ||
| ENST00000706676.1:c.1192G>T | ENSP00000516492.1:p.Gly398Cys | |
| ENST00000706677.1:c.1018G>T | ENSP00000516493.1:p.Gly340Cys | |
| ENST00000706678.1:n.938G>T | ||
| ENST00000706679.1:c.850G>T | ENSP00000516494.1:p.Gly284Cys | |
| ENST00000706680.1:c.*861G>T | ENSP00000516495.1:n.*861G>T | |
| ENST00000706681.1:c.*757G>T | ENSP00000516496.1:n.*757G>T | |
| ENST00000342058.9:c.1018G>T MANE Select | ENSP00000345008.4:p.Gly340Cys | |
| ENST00000267620.14:c.1141G>T | ENSP00000267620.10:p.Gly381Cys | |
| ENST00000342058.8:c.1018G>T | ENSP00000345008.4:p.Gly340Cys | |
| ENST00000554121.2:n.144G>T | ||
| ENST00000556154.5:c.1033G>T | ENSP00000451982.1:p.Gly345Cys | |
| NM_006329.3:c.1018G>T , LRG_364t1:c.1018G>T | NP_006320.2:p.Gly340Cys | |
| XM_005267267.3:c.1069G>T | XP_005267324.1:p.Gly357Cys | |
| XM_011536356.1:c.1069G>T | XP_011534658.1:p.Gly357Cys | |
| XM_011536357.1:c.1018G>T | XP_011534659.1:p.Gly340Cys | |
| XM_011536358.1:c.850G>T | XP_011534660.1:p.Gly284Cys | |
| XM_011536357.2:c.1018G>T | XP_011534659.1:p.Gly340Cys | |
| XM_011536358.2:c.850G>T | XP_011534660.1:p.Gly284Cys | |
| XM_017020929.2:c.850G>T | XP_016876418.1:p.Gly284Cys | |
| NM_001384158.1:c.1141G>T | NP_001371087.1:p.Gly381Cys | |
| NM_001384159.1:c.1069G>T | NP_001371088.1:p.Gly357Cys | |
| NM_001384160.1:c.1018G>T | NP_001371089.1:p.Gly340Cys | |
| NM_001384161.1:c.850G>T | NP_001371090.1:p.Gly284Cys | |
| NM_001384162.1:c.850G>T | NP_001371091.1:p.Gly284Cys | |
| NM_006329.4:c.1018G>T MANE Select | NP_006320.2:p.Gly340Cys |